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Article: Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification
Title | Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification |
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Authors | |
Keywords | Huntington disease live birth PGD whole genome amplification |
Issue Date | 2009 |
Publisher | Elsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/fertnstert |
Citation | Fertility And Sterility, 2009, v. 92 n. 2, p. 828.e7-828.e10 How to Cite? |
Abstract | Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. Design: Case report. Setting: University assisted reproduction unit. Patient(s): A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele. Intervention(s): Preimplantation genetic diagnosis with whole genome amplification for identification of genetically normal embryos. Main Outcome Measure(s): Live birth. Result(s): In an IVF cycle, 15 oocytes were retrieved, of which 13 were mature and 11 were fertilized. On day 3, embryo biopsy and PGD were performed on ten good-quality embryos. Multiple displacement amplification was conducted, followed by polymerase chain reaction with fluorescence primers. Three pairs of primers were used for the amplification of the IT15 gene at the: 1) trinucleotide expansion site; 2) trinucleotide expansion site plus the polymorphic site situated on its 3′-end; and 3) polymorphic marker located downstream of the trinucleotide repeats. Two normal blastocysts were replaced on day 5 and another two good-quality blastocysts were cryopreserved. The woman gave birth to a normal baby girl whose normal genetic status was confirmed by prenatal diagnosis. Conclusion(s): Whole genome amplification by multiple displacement amplification can be used for PGD of Huntington disease. © 2009 American Society for Reproductive Medicine. |
Persistent Identifier | http://hdl.handle.net/10722/125547 |
ISSN | 2021 Impact Factor: 7.490 2020 SCImago Journal Rankings: 2.272 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
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dc.contributor.author | Chow, JFC | en_HK |
dc.contributor.author | Yeung, WSB | en_HK |
dc.contributor.author | Lau, EYL | en_HK |
dc.contributor.author | Lam, STS | en_HK |
dc.contributor.author | Tong, T | en_HK |
dc.contributor.author | Ng, EHY | en_HK |
dc.contributor.author | Ho, PC | en_HK |
dc.date.accessioned | 2010-10-31T11:37:35Z | - |
dc.date.available | 2010-10-31T11:37:35Z | - |
dc.date.issued | 2009 | en_HK |
dc.identifier.citation | Fertility And Sterility, 2009, v. 92 n. 2, p. 828.e7-828.e10 | en_HK |
dc.identifier.issn | 0015-0282 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/125547 | - |
dc.description.abstract | Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. Design: Case report. Setting: University assisted reproduction unit. Patient(s): A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele. Intervention(s): Preimplantation genetic diagnosis with whole genome amplification for identification of genetically normal embryos. Main Outcome Measure(s): Live birth. Result(s): In an IVF cycle, 15 oocytes were retrieved, of which 13 were mature and 11 were fertilized. On day 3, embryo biopsy and PGD were performed on ten good-quality embryos. Multiple displacement amplification was conducted, followed by polymerase chain reaction with fluorescence primers. Three pairs of primers were used for the amplification of the IT15 gene at the: 1) trinucleotide expansion site; 2) trinucleotide expansion site plus the polymorphic site situated on its 3′-end; and 3) polymorphic marker located downstream of the trinucleotide repeats. Two normal blastocysts were replaced on day 5 and another two good-quality blastocysts were cryopreserved. The woman gave birth to a normal baby girl whose normal genetic status was confirmed by prenatal diagnosis. Conclusion(s): Whole genome amplification by multiple displacement amplification can be used for PGD of Huntington disease. © 2009 American Society for Reproductive Medicine. | en_HK |
dc.language | eng | en_HK |
dc.publisher | Elsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/fertnstert | en_HK |
dc.relation.ispartof | Fertility and Sterility | en_HK |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.subject | Huntington disease | en_HK |
dc.subject | live birth | en_HK |
dc.subject | PGD | en_HK |
dc.subject | whole genome amplification | en_HK |
dc.title | Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0015-0282&volume=92&issue=2&spage=828.e7&epage=828.e10&date=2009&atitle=Singleton+birth+after+preimplantation+genetic+diagnosis+for+Huntington+disease+using+whole+genome+amplification | en_HK |
dc.identifier.email | Yeung, WSB:wsbyeung@hkucc.hku.hk | en_HK |
dc.identifier.email | Ng, EHY:nghye@hkucc.hku.hk | en_HK |
dc.identifier.email | Ho, PC:pcho@hku.hk | en_HK |
dc.identifier.authority | Yeung, WSB=rp00331 | en_HK |
dc.identifier.authority | Ng, EHY=rp00426 | en_HK |
dc.identifier.authority | Ho, PC=rp00325 | en_HK |
dc.description.nature | postprint | - |
dc.identifier.doi | 10.1016/j.fertnstert.2009.05.007 | en_HK |
dc.identifier.pmid | 19515365 | - |
dc.identifier.scopus | eid_2-s2.0-67651098959 | en_HK |
dc.identifier.hkuros | 181342 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-67651098959&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 92 | en_HK |
dc.identifier.issue | 2 | en_HK |
dc.identifier.spage | 828.e7 | en_HK |
dc.identifier.epage | 828.e10 | en_HK |
dc.identifier.isi | WOS:000283282400003 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Chow, JFC=7401728953 | en_HK |
dc.identifier.scopusauthorid | Yeung, WSB=7102370745 | en_HK |
dc.identifier.scopusauthorid | Lau, EYL=7103086093 | en_HK |
dc.identifier.scopusauthorid | Lam, STS=7402279428 | en_HK |
dc.identifier.scopusauthorid | Tong, T=8648362100 | en_HK |
dc.identifier.scopusauthorid | Ng, EHY=35238184300 | en_HK |
dc.identifier.scopusauthorid | Ho, PC=7402211440 | en_HK |
dc.identifier.citeulike | 5058035 | - |
dc.identifier.issnl | 0015-0282 | - |